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Published in partnership with the
European Association for the Study of Diabetes
Research Letter
A. S. Slingerland, B. M. Shields, S. E. Flanagan, G. J. Bruining, K. Noordam, A. Gach, W. Mlynarski, M. T. Malecki, A. T. Hattersley and S. Ellard
Journal Article
Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation
N. Zwaveling-Soonawala, E. E. Hagebeuk, A. S. Slingerland, C. Ris-Stalpers and T. Vulsma, et al.
Diabetologia, 2011, Volume 54, Number 2, Pages 469-471
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11
Emma L. Edghill, Sarah E. Flanagan and Sian Ellard
Reviews in Endocrine & Metabolic Disorders, 2010, Volume 11, Number 3, Pages 193-198
Neonatal diabetes mellitus: a disease linked to multiple mechanisms
Michel Polak and Hélène Cavé
Orphanet Journal of Rare Diseases, 2007, Volume 2, Number 1, 12
Permanent diabetes during the first year of life: multiple gene screening in 54 patients
L. Russo, D. Iafusco, S. Brescianini, V. Nocerino and C. Bizzarri, et al.
Diabetologia, 2011, Volume 54, Number 7, Pages 1693-1701
Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient
Annabelle S. Slingerland
Reviews in Endocrine & Metabolic Disorders, 2006, Volume 7, Number 3, Pages 171-185
Book Chapter
Genetically Programmed Defects in β-Cell Function
Aparna Pal and Anna L. Gloyn
Systems Biology, 1, Volume 2, BetaSys, Part 3, Pages 299-326
A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications
P. Tammaro, S. E. Flanagan, B. Zadek, S. Srinivasan and H. Woodhead, et al.
Diabetologia, 2008, Volume 51, Number 5, Pages 802-810
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation
C. Colombo, M. Delvecchio, C. Zecchino, M. F. Faienza and L. Cavallo, et al.
Diabetologia, 2005, Volume 48, Number 11, Pages 2439-2441
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes
D. Iafusco, C. Bizzarri, F. Cadario, R. Pesavento and G. Tonini, et al.
Diabetologia, 2011, Volume 54, Number 10, Pages 2736-2738
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype
S. E. Flanagan, E. L. Edghill, A. L. Gloyn, S. Ellard and A. T. Hattersley
Diabetologia, 2006, Volume 49, Number 6, Pages 1190-1197
Keywords Genetic testing - Incidence - Monogenic diabetes - Neonatal diabetes - PNDM
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